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Article

Aartsma-Rus, A; Straub, V; Hemmings, R; Haas, M; Schlosser-Weber, G; Stoyanova-Beninska, V; Mercuri, E; ... Balabanov, P; + view all (2017) Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues. [Review]. Nucleic Acid Ther 10.1089/nat.2017.0682. (In press). Green open access
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Adler, S; Lorio, S; Jacques, TS; Benova, B; Gunny, R; Cross, JH; Baldeweg, T; (2017) Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI. NeuroImage: Clinical , 15 pp. 95-105. 10.1016/j.nicl.2017.04.017. Green open access
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Adler, S; Wagstyl, K; Gunny, R; Ronan, L; Carmichael, D; Cross, JH; Fletcher, PC; (2017) Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy. NeuroImage: Clinical , 14 pp. 18-27. 10.1016/j.nicl.2016.12.030. Green open access
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Amin, S; Lux, A; Calder, N; Laugharne, M; Osborne, J; O'callaghan, F; (2017) Causes of mortality in individuals with tuberous sclerosis complex. Dev Med Child Neurol , 59 (6) pp. 612-617. 10.1111/dmcn.13352. Green open access
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Amin, S; Lux, A; Khan, A; O'Callaghan, F; (2017) Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex. Int Sch Res Notices , 2017 , Article 8404378. 10.1155/2017/8404378. Green open access
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Amin, S; Slaney, K; O'Callaghan, FJ; (2017) Musculoskeletal involvement in tuberous sclerosis. Archives of Disease in Childhood , 102 (2) p. 178. 10.1136/archdischild-2016-310980. Green open access
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Arichi, T; Whitehead, K; Barone, G; Pressler, R; Padormo, F; Edwards, AD; Fabrizi, L; (2017) Localization of spontaneous bursting neuronal activity in the preterm human brain with simultaneous EEG-fMRI. eLIFE , 6 , Article e27814. 10.7554/eLife.27814. Green open access
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Arthurs, OJ; Hutchinson, JC; Sebire, NJ; (2017) Current issues in postmortem imaging of perinatal and forensic childhood deaths. Forensic Science, Medicine, and Pathology , 13 (1) pp. 58-66. 10.1007/s12024-016-9821-x. Green open access
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Bachmann, C; Jungbluth, H; Muntoni, F; Manzur, AY; Zorzato, F; Treves, S; (2017) Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human Molecular Genetics , 26 (2) pp. 320-332. 10.1093/hmg/ddw388. Green open access
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Bathelt, J; Dale, N; de Haan, M; (2017) Event-related potential response to auditory social stimuli, parent-reported social communicative deficits and autism risk in school-aged children with congenital visual impairment. Developmental Cognitive Neuroscience , 27 pp. 10-18. 10.1016/j.dcn.2017.07.003. Green open access
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Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; ... Artuch, R; + view all (2017) Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nature Protocols , 12 (11) pp. 2359-2375. 10.1038/nprot.2017.103. Green open access
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Benedetti, S; Uno, N; Hoshiya, H; Ragazzi, M; Ferrari, G; Kazuki, Y; Moyle, LA; ... Tedesco, FS; + view all (2017) Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy. EMBO Molecular Medicine , 9 (12) pp. 1623-1764. 10.15252/emmm.201607284. Green open access
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Beniczky, S; Aurlien, H; Brøgger, JC; Hirsch, LJ; Schomer, DL; Trinka, E; Pressler, RM; ... Herman, ST; + view all (2017) Standardized computer-based organized reporting of EEG: SCORE – Second version. [Review]. Clinical Neurophysiology , 128 (11) pp. 2334-2346. 10.1016/j.clinph.2017.07.418. Green open access
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Bernabò, P; Tebaldi, T; Groen, EJN; Lane, FM; Perenthaler, E; Mattedi, F; Newbery, HJ; ... Viero, G; + view all (2017) In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell Reports , 21 (4) pp. 953-965. 10.1016/j.celrep.2017.10.010. Green open access
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Bertini, E; Dessaud, E; Mercuri, E; Muntoni, F; Kirschner, J; Reid, C; Lusakowska, A; ... Fontoura, P; + view all (2017) Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurology , 16 (7) pp. 513-522. 10.1016/S1474-4422(17)30085-6. Green open access
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Bertoli, S; De Amicis, R; Mastella, C; Pieri, G; Giaquinto, E; Battezzati, A; Leone, A; (2017) Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure? Clinical Nutrition , 36 (6) pp. 1674-1680. 10.1016/j.clnu.2016.10.020. Green open access
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Blumcke, I; Spreafico, R; Haaker, G; Coras, R; Kobow, K; Bien, CG; Pfaefflin, M; ... Avanzini, G; + view all (2017) Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. The New England Journal of Medicine , 377 (17) pp. 1648-1656. 10.1056/NEJMoa1703784. Green open access
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Boldrin, L; Ross, JA; Whitmore, C; Doreste, B; Beaver, C; Eddaoudi, A; Pearce, DJ; (2017) The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent. Science Reports , 7 (1) , Article 5160. 10.1038/s41598-017-04896-y. Green open access
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Boonzaier, NR; Larkin, TJ; Matys, T; van der Hoorn, A; Yan, J-L; Price, SJ; (2017) Multiparametric MR Imaging of Diffusion and Perfusion in Contrast-enhancing and Nonenhancing Components in Patients with Glioblastoma. Radiology , 284 (1) pp. 180-190. 10.1148/radiol.2017160150. Green open access
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Boult, JKR; Apps, JR; Hölsken, A; Hutchinson, JC; Carreno, G; Danielson, LS; Smith, LM; ... Robinson, SP; + view all (2017) Preclinical transgenic and patient-derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma. Brain Pathology 10.1111/bpa.12525. (In press). Green open access
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Brayson, D; Shanahan, CM; (2017) Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus , 8 (1) pp. 17-33. 10.1080/19491034.2016.1260798. Green open access
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Böhm, J; Bulla, M; Urquhart, JE; Malfatti, E; Williams, SG; O'Sullivan, J; Szlauer, A; ... Laporte, J; + view all (2017) ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Human Mutation , 38 (4) pp. 426-438. 10.1002/humu.23172. Green open access
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Centeno, M; Tierney, TM; Perani, S; Shamshiri, EA; StPier, K; Wilkinson, C; Konn, D; ... Carmichael, DW; + view all (2017) Combined EEG-fMRI and ESI improves localisation of paediatric focal epilepsy. Annals of Neurology , 82 (2) pp. 278-287. 10.1002/ana.25003. Green open access
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Chan, S; Pressler, R; Boyd, SG; Baldeweg, T; Cross, JH; (2017) Does sleep benefit memory consolidation in children with focal epilepsy? Epilepsia , 58 (3) pp. 456-466. 10.1111/epi.13668. Green open access
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Chelban, V; Manole, A; Pihlstrøm, L; Schottlaender, L; Efthymiou, S; OConnor, E; Meissner, WG; ... Houlden, H; + view all (2017) Analysis of the prion protein gene in multiple system atrophy. Neurobiology of Aging , 49 216.e15-216.e18. 10.1016/j.neurobiolaging.2016.09.021. Green open access
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Cooper, JE; Natarajan, D; McCann, CJ; Choudhury, S; Godwin, H; Burns, AJ; Thapar, N; (2017) In vivo transplantation of fetal human gut-derived enteric neural crest cells. Neurogastroenterology & Motility , 29 (1) , Article e12900. 10.1111/nmo.12900. Green open access
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Cornett, KM; Menezes, MP; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; ... CMTPedS Study Group, .; + view all (2017) Natural history of Charcot-Marie-Tooth disease during childhood. Annals of Neurology , 82 (3) pp. 353-359. 10.1002/ana.25009. Green open access
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Counsell, JR; Asgarian, Z; Meng, J; Ferrer, V; Vink, CA; Howe, SJ; Waddington, SN; ... Danos, O; + view all (2017) Lentiviral vectors can be used for full-length dystrophin gene therapy. Scientific Reports , 7 , Article 44775. 10.1038/srep44775. Green open access
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Cross, JH; Auvin, S; Falip, M; Striano, P; Arzimanoglou, A; (2017) Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Consideration. Frontiers in Neurology , 8 , Article 505. 10.3389/fneur.2017.00505. Green open access
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Cross, JH; Spoudeas, H; (2017) Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia , 58 (S2) pp. 16-21. 10.1111/epi.13758. Green open access
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Cummings, BB; Marshall, JL; Tukiainen, T; Lek, M; Donkervoort, S; Foley, AR; Bolduc, V; ... MacArthur, DG; + view all (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine , 9 (386) 10.1126/scitranslmed.aa15209. Green open access
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Dabrowski, J; King, J; Edwards, K; Yates, R; Heyman, I; Zimmerman-Brenner, S; Murphy, T; (2017) The Long-Term Effects of Group-Based Psychological Interventions for Children With Tourette Syndrome: A Randomized Controlled Trial. Behavior Therapy 10.1016/j.beth.2017.10.005. (In press). Green open access
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Dale, CE; Fatemifar, G; Palmer, TM; White, J; Prieto-Merino, D; Zabaneh, D; Engmann, JEL; ... Casas, JP; + view all (2017) Causal Associations of Adiposity and Body Fat Distribution With Coronary Heart Disease, Stroke Subtypes, and Type 2 Diabetes Mellitus: A Mendelian Randomization Analysis. Circulation , 135 (24) pp. 2373-2388. 10.1161/CIRCULATIONAHA.116.026560. Green open access
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Dale, N; Sakkalou, E; O'Reilly, M; Springall, C; De Haan, M; Salt, A; (2017) Functional vision and cognition in infants with congenital disorders of the peripheral visual system. Developmental Medicine and Child Neurology , 59 (7) pp. 725-731. 10.1111/dmcn.13429. Green open access
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Danti, FR; Galosi, S; Romani, M; Montomoli, M; Carss, KJ; Raymond, FL; Parrini, E; ... Guerrini, R; + view all (2017) GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurology Genetics , 3 (2) , Article e143. 10.1212/NXG.0000000000000143. Green open access
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Devinsky, O; Cross, JH; Laux, L; Marsh, E; Miller, I; Nabbout, R; Scheffer, IE; ... Wright, S; + view all (2017) Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. The New England Journal of Medicine , 376 (21) pp. 2011-2020. 10.1056/NEJMoa1611618. Green open access
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Dibenedetto, S; Niklison-Chirou, M; Cabrera, CP; Ellis, M; Robson, LG; Knopp, P; Tedesco, FS; ... Marino, S; + view all (2017) Enhanced Energetic State and Protection from Oxidative Stress in Human Myoblasts Overexpressing BMI1. Stem Cell Reports , 9 (2) pp. 528-542. 10.1016/j.stemcr.2017.06.009. Green open access
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Dlamini, N; Saunders, DE; Bynevelt, M; Trompeter, S; Cox, TC; Bucks, RS; Kirkham, FJ; (2017) Nocturnal oxyhemoglobin desaturation and arteriopathy in a pediatric sickle cell disease cohort. Neurology , 89 (24) 10.1212/WNL.0000000000004728. Green open access
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Dowling, MM; Quinn, CT; Ramaciotti, C; Kanter, J; Osunkwo, I; Inusa, B; Iyer, R; ... PFAST Investigators, .; + view all (2017) Increased prevalence of potential right-to-left shunting in children with sickle cell anaemia and stroke. British Journal of Haematology , 176 (2) pp. 300-308. 10.1111/bjh.14391. Green open access
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Downes, M; Bathelt, J; De Haan, M; (2017) Event-related potential measures of executive functioning from preschool to adolescence. Developmental Medicine and Child Neurology , 59 (6) pp. 581-590. 10.1111/dmcn.13395. Green open access
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Downes, M; De Haan, M; Kirkham, FJ; Telfer, PT; (2017) Parent reported sleep problems in preschool children with sickle cell anemia and controls in East London. Pediatric Blood & Cancer , 64 (6) , Article e26337. 10.1002/pbc.26337. Green open access
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Dzieciol, AM; Bachevalier, J; Saleem, KS; Gadian, DG; Saunders, R; Chong, WK; Banks, T; ... Vargha-Khadem, F; + view all (2017) Hippocampal and diencephalic pathology in developmental amnesia. Cortex , 86 pp. 33-44. 10.1016/j.cortex.2016.09.016. Green open access
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Edwards, HB; Mallick, AA; O'Callaghan, FJK; (2017) Immunotherapy for arterial ischaemic stroke in childhood: a systematic review. Archives of Disease in Childhood , 102 (5) pp. 410-415. 10.1136/archdischild-2016-311034. Green open access
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Elliott, CL; Arthurs, OJ; Young, J; (2017) Current status of UK radiology trainee experience in post-mortem imaging: A questionnaire-based survey. Journal of Forensic Radiology and Imaging , 9 pp. 31-35. 10.1016/j.jofri.2017.03.005. Green open access
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Finkel, RS; Mercuri, E; Darras, BT; Connolly, AM; Kuntz, NL; Kirschner, J; Chiriboga, CA; ... De Vivo, DC; + view all (2017) Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. New England Journal of Medicine , 377 (18) pp. 1723-1732. 10.1056/NEJMoa1702752. Green open access
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Finlayson, NJ; Papageorgiou, A; Schwarzkopf, DS; (2017) A new method for mapping perceptual biases across visual space. Journal of Vision , 17 (9) , Article 5. 10.1167/17.9.5. Green open access
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Fisher, RS; Cross, JH; D'Souza, C; French, JA; Haut, SR; Higurashi, N; Hirsch, E; ... Zuberi, SM; + view all (2017) Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia , 58 (4) pp. 531-542. 10.1111/epi.13671. Green open access
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Fisher, RS; Cross, JH; French, JA; Higurashi, N; Hirsch, E; Jansen, FE; Lagae, L; ... Zuberi, SM; + view all (2017) Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia , 58 (4) pp. 522-530. 10.1111/epi.13670. Green open access
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Fosi, T; Werner, K; Boyd, SG; De Haan, M; Scott, RC; Neville, BG; (2017) Auditory processing following infantile spasms: An event-related potential study. Epilepsia , 58 (5) pp. 872-881. 10.1111/epi.13725. Green open access
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Galadanci, NA; Abdullahi, SU; Vance, LD; Tabari, AM; Ali, S; Belonwu, R; Salihu, A; ... DeBaun, MR; + view all (2017) Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). American Journal of Hematology , 92 (8) pp. 780-788. 10.1002/ajh.24770. Green open access
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Gibbard, CR; Ren, J; Skuse, DH; Clayden, JD; Clark, CA; (2017) Structural connectivity of the amygdala in young adults with autism spectrum disorder. Human Brain Mapping 10.1002/hbm.23915. (In press). Green open access
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Hallak, LK; Berger, K; Kaspar, R; Kwilas, AR; Montanaro, F; Peeples, ME; (2017) Efficient method for site-directed mutagenesis in large plasmids without subcloning. PLoS One , 12 (6) , Article e0177788. 10.1371/journal.pone.0177788. Green open access
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Hamandi, K; Beniczky, S; Diehl, B; Kandler, RH; Pressler, RM; Sen, A; Solomon, J; ... ILAE British Chapter Workshop Attendees, ; + view all (2017) Current practice and recommendations in UK epilepsy monitoring units. Report of a national survey and workshop. Seizure , 50 pp. 92-98. 10.1016/j.seizure.2017.06.015. Green open access
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Handley, SE; Vargha-Khadem, F; Bowman, RJ; Liasis, A; (2017) Visual Function Twenty Years After Childhood Hemispherectomy for Intractable Epilepsy. American Journal of Ophthalmology , 177 pp. 81-89. 10.1016/j.ajo.2017.02.014. Green open access
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Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; ... Ryvlin, P; + view all (2017) Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Epilepsy Currents , 17 (3) pp. 180-187. 10.5698/1535-7511.17.3.180. Green open access
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Harden, C; Tomson, T; Gloss, D; Buchhalter, J; Cross, JH; Donner, E; French, JA; ... Ryvlin, P; + view all (2017) Practice guideline summary: Sudden unexpected death in epilepsy incidence rates and risk factors Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology , 88 (17) pp. 1674-1680. 10.1212/WNL.0000000000003685. Green open access
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Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; ... Rahman, S; + view all (2017) The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine 10.1038/gim.2017.35. (In press). Green open access
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Hill, NE; Murphy, KG; Saeed, S; Phadke, R; Chambers, D; Wilson, DR; Brett, SJ; (2017) Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness. PLoS ONE , 12 (8) , Article e0182659. 10.1371/journal.pone.0182659. Green open access
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Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all (2017) Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial. Pilot and Feasibility Studies , 3 , Article 16. 10.1186/s40814-017-0132-0. Green open access
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Hind, D; Parkin, J; Whitworth, V; Rex, S; Young, T; Hampson, L; Sheehan, J; ... Baxter, P; + view all (2017) Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. Health Technology Assessment , 21 (27) 10.3310/hta21270. Green open access
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Hogarth, P; Kurian, MA; Gregory, A; Csányi, B; Zagustin, T; Kmiec, T; Wood, P; ... Hayflick, SJ; + view all (2017) Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). Mol Genet Metab , 120 (3) pp. 278-287. 10.1016/j.ymgme.2016.11.004. Green open access
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Hutchinson, JC; Ashworth, MT; Sebire, NJ; Arthurs, OJ; (2017) Multiple Cardiac Rhabdomyomas Visualised Using Micro-CT in a Case of Tuberous Sclerosis. Fetal Diagnosis and Therapy , 41 (2) 10.1159/000448708. Green open access
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Hutchinson, JC; Shelmerdine, SC; Simcock, IC; Sebire, NJ; Arthurs, OJ; (2017) Early clinical applications for imaging at microscopic detail: microfocus computed tomography (micro-CT). British Journal of Radiology , Article 20170113. 10.1259/bjr.20170113. (In press). Green open access
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Jones, L; Fabrizi, L; Laudiano-Dray, M; Whitehead, K; Meek, J; Verriotis, M; Fitzgerald, M; (2017) Nociceptive Cortical Activity Is Dissociated from Nociceptive Behavior in Newborn Human Infants under Stress. Curr Biol 10.1016/j.cub.2017.10.063. (In press). Green open access
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Jones, M; Darwall, D; Khalid, G; Prabhu, R; Kemp, A; Arthurs, OJ; Theobald, P; (2017) Development and validation of a physical model to investigate the biomechanics of infant head impact. Forensic Science International , 276 pp. 111-119. 10.1016/j.forsciint.2017.03.025. Green open access
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Kane, N; Acharya, J; Benickzy, S; Caboclo, L; Finnigan, S; Kaplan, PW; Shibasaki, H; ... van Putten, MJAM; + view all (2017) A revised glossary of terms most commonly used by clinical electroencephalographers and updated proposal for the report format of the EEG findings. Revision 2017. Clinical Neurophysiology Practice , 2 pp. 170-185. 10.1016/j.cnp.2017.07.002. Green open access
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Kang, X; Cannie, MM; Arthurs, OJ; Segers, V; Fourneau, C; Bevilacqua, E; Cos Sanchez, T; ... Jani, JC; + view all (2017) Post-mortem whole-body magnetic resonance imaging of human fetuses: a comparison of 3-T vs. 1.5-T MR imaging with classical autopsy. European Radiology , 27 (8) pp. 3542-3553. 10.1007/s00330-016-4725-4. Green open access
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Kang, X; Shelmerdine, SC; Hurtado, I; Bevilacqua, E; Hutchinson, C; Mandalia, U; Segers, V; ... Jani, JC; + view all (2017) Postmortem examination of human fetuses: a comparison of 2-dimensional ultrasound with invasive autopsy. Ultrasound in Obstetric and Gynecology 10.1002/uog.18828. (In press). Green open access
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Karda, R; Perocheau, DP; Suff, N; Ng, J; Delhove, JMKM; Buckley, SMK; Richards, S; ... Waddington, SN; + view all (2017) Continual conscious bioluminescent imaging in freely moving somatotransgenic mice. Sci Rep , 7 (1) , Article 6374. 10.1038/s41598-017-06696-w. Green open access
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Kawadler, JM; Clark, CA; McKinstry, RC; Kirkham, FJ; (2017) Brain atrophy in paediatric sickle cell anaemia: findings from the silent infarct transfusion ( SIT) trial. [Editorial comment]. British Journal of Haematology , 177 (1) pp. 151-153. 10.1111/bjh.14039. Green open access
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Keylock, A; Hong, Y; Saunders, D; Omoyinmi, E; Mulhern, C; Roebuck, D; Brogan, P; ... Eleftheriou, D; + view all (2017) Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11. Neurology 10.1212/WNL.0000000000004828. Green open access
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Kingswood, JC; d'Augères, GB; Belousova, E; Ferreira, JC; Carter, T; Castellana, R; Cottin, V; ... TOSCA consortium and TOSCA investigators, .; + view all (2017) TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet Journal of Rare Diseases , 12 , Article 2. 10.1186/s13023-016-0553-5. Green open access
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Kinsler, VA; O'Hare, P; Jacques, T; Hargrave, D; Slater, O; (2017) MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children. British Journal of Cancer 10.1038/bjc.2017.49. (In press). Green open access
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Kirkham, FJ; (2017) Editorial. [Editorial comment]. Current Opinion in Neurology , 30 (2) pp. 125-126. 10.1097/WCO.0000000000000428. Green open access
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Kirkham, FJ; (2017) Neurocognitive outcomes for acute global acquired brain injury in children. Current Opinion in Neurology , 30 (2) pp. 148-155. 10.1097/WCO.0000000000000427. Green open access
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Kupferman, JC; Zafeiriou, DI; Lande, MB; Kirkham, FJ; Pavlakis, SG; (2017) Stroke and Hypertension in Children and Adolescents. Journal of Child Neurology , 32 (4) pp. 408-417. 10.1177/0883073816685240. Green open access
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Lehnen, D; Barral, S; Cardoso, T; Grealish, S; Heuer, A; Smiyakin, A; Kirkeby, A; ... Knoebel, S; + view all (2017) IAP-Based Cell Sorting Results in Homogeneous Transplantable Dopaminergic Precursor Cells Derived from Human Pluripotent Stem Cells. Stem Cell Reports , 9 (4) pp. 1207-1220. 10.1016/j.stemcr.2017.08.016. Green open access
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Liégeois, F; (2017) Neurobiology of developmental coordination disorder: time to raise our game. [Editorial comment]. Dev Med Child Neurol , 59 (11) p. 1103. 10.1111/dmcn.13539. Green open access
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Lourbakos, A; Yau, N; de Bruijn, P; Hiller, M; Kozaczynska, K; Jean-Baptiste, R; Reza, M; ... Spitali, P; + view all (2017) Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Scientific Reports , 7 , Article 17888. 10.1038/s41598-017-17982-y. Green open access
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Maddock, J; Zhou, A; Cavadino, A; Kuzma, E; Bao, Y; Smart, MC; Saum, K-U; ... Hypponen, E; + view all (2017) Vitamin D and cognitive function: A Mendelian randomisation study. Scientific Reports , 7 , Article 13230. 10.1038/s41598-017-13189-3. Green open access
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Maier-Hein, KH; Neher, PF; Houde, JC; Côté, MA; Garyfallidis, E; Zhong, J; Chamberland, M; ... Descoteaux, M; + view all (2017) The challenge of mapping the human connectome based on diffusion tractography. Nature Communications , 8 , Article 1349. 10.1038/s41467-017-01285-x. Green open access
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Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; ... Houlden, H; + view all (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain , 140 (11) pp. 2820-2837. 10.1093/brain/awx231. Green open access
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Mapplebeck, JCS; Beggs, S; Salter, MW; (2017) Molecules in pain and sex: a developing story. Molecular Brain , 10 , Article 9. 10.1186/s13041-017-0289-8. Green open access
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Mariot, V; Joubert, R; Hourdé, C; Féasson, L; Hanna, M; Muntoni, F; Maisonobe, T; ... Dumonceaux, J; + view all (2017) Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Nature Communications , 8 , Article 1859. 10.1038/s41467-017-01486-4. Green open access
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Marrosu, E; Ala, P; Muntoni, F; Zhou, H; (2017) Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Molecular Therapy - Nucleic Acids , 8 pp. 416-427. 10.1016/j.omtn.2017.07.006. Green open access
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Martinos, MM; Pujar, S; Gillberg, C; Cortina-Borja, M; Neville, BGR; De Haan, M; Scott, RC; (2017) Long-term behavioural outcomes after paediatric convulsive status epilepticus: a population-based cohort study. Developmental Medicine & Child Neurology 10.1111/dmcn.13636. (In press). Green open access
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Matthews, E; Silwal, A; Sud, R; Hanna, MG; Manzur, AY; Muntoni, F; Munot, P; (2017) Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms. Journal of Pediatrics , 188 181-185.e6. 10.1016/j.jpeds.2017.05.081. Green open access
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McCann, CJ; Cooper, JE; Natarajan, D; Jevans, B; Burnett, LE; Burns, AJ; Thapar, N; (2017) Transplantation of enteric nervous system stem cells rescues nitric oxide synthase deficient mouse colon. Nature Communications , 8 (15937) 10.1038/ncomms15937. Green open access
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McColgan, P; Gregory, S; Razi, A; Seunarine, KK; Gargouri, F; Durr, A; Roos, RA; ... Johnson, H; + view all (2017) White matter predicts functional connectivity in premanifest Huntington's disease. Annals of Clinical and Translational Neurology , 4 (2) pp. 106-118. 10.1002/acn3.384. Green open access
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McColgan, P; Gregory, S; Seunarine, KK; Razi, A; Papoutsi, M; Johnson, E; Durr, A; ... Tabrizi, SJ; + view all (2017) Brain regions showing white matter loss in Huntington’s disease are enriched for synaptic and metabolic genes. Biological Psychiatry 10.1016/j.biopsych.2017.10.019. (In press). Green open access
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McColgan, P; Seunarine, K; Gregory, S; Razi, A; Papoutsi, M; Long, J; Mills, J; ... Track-On HD Investigators, ; + view all (2017) Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease. JCI Insight , 2 (8) , Article e92641. 10.1172/jci.insight.92641. Green open access
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McDonald, CM; Campbell, C; Erazo Torricelli, R; Finkel, RS; Flanigan, KM; Goemans, N; Heydemann, P; ... Mercuri, E; + view all (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet , 390 (10101) pp. 1489-1498. 10.1016/S0140-6736(17)31611-2. Green open access
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Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740. Green open access
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Moran, C; Habeb, AM; Kahaly, GJ; Kampmann, C; Hughes, M; Marek, J; Rajanayagam, O; ... Chatterjee, K; + view all (2017) Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure? Journal of the Endocrine Society , 1 (9) pp. 1203-1212. 10.1210/js.2017-00204. Green open access
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Munoz-Lopez, M; Hoskote, A; Chadwick, MJ; Dzieciol, AM; Gadian, DG; Chong, K; Banks, T; ... Vargha-Khadem, F; + view all (2017) Hippocampal damage and memory impairment in congenital cyanotic heart disease. HIPPOCAMPUS , 27 (4) pp. 417-424. 10.1002/hipo.22700. Green open access
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Muñoz Maniega, S; Bastin, ME; Deary, IJ; Wardlaw, JM; Clayden, JD; (2017) Reference tracts and generative models for brain white matter tractography. Journal of Imaging , 4 (1) p. 8. 10.3390/jimaging4010008. Green open access
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Nasca, A; Scotton, C; Zaharieva, I; Neri, M; Selvatici, R; Magnusson, OT; Gal, A; ... Ghezzi, D; + view all (2017) Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Human Mutation , 38 (8) pp. 970-977. 10.1002/humu.23262. Green open access
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Nedjati-Gilani, GL; Schneider, T; Hall, MG; Cawley, N; Hill, I; Ciccarelli, O; Drobnjak, I; ... Alexander, DC; + view all (2017) Machine learning based compartment models with permeability for white matter microstructure imaging. NeuroImage , 150 pp. 119-135. 10.1016/j.neuroimage.2017.02.013. Green open access
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Ngoh, A; Bras, J; Guerreiro, R; McTague, A; Ng, J; Meyer, E; Chong, WK; ... Kurian, MA; + view all (2017) TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. Tremor and other Hyperkinetic Movements , 7 10.7916/D8Q52VBV. Green open access
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Nielsen, BW; Scott, RC; (2017) Brain abnormalities in fetuses: in-utero MRI versus ultrasound. Lancet , 389 (10068) pp. 483-485. 10.1016/S0140-6736(16)32565-X. Green open access
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Nkya, S; Mgaya, J; Urio, F; Makubi, A; Thein, SL; Menzel, S; Cox, SE; ... Makani, J; + view all (2017) Fetal Hemoglobin is Associated with Peripheral Oxygen Saturation in Sickle Cell Disease in Tanzania. EBioMedicine 10.1016/j.ebiom.2017.08.006. (In press). Green open access
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O'Keeffe, F; Murphy, O; Ganesan, V; King, J; Murphy, T; (2017) Neuropsychological outcome following childhood stroke – a review. Brain Injury , 31 (12) pp. 1575-1589. 10.1080/02699052.2017.1332782. Green open access
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O'Keeffe, F; Stark, D; Murphy, O; Ganesan, V; King, J; Murphy, T; (2017) Psychosocial outcome and quality of life following childhood stroke - A systematic review. Developmental Neurorehabilitation , 20 (7) pp. 428-442. 10.1080/17518423.2017.1282052. Green open access
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O'Neill, HC; Pini, V; Muntoni, F; Morgan, J; (2017) Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies. Current Stem Cell Reports , 3 (2) pp. 137-148. 10.1007/s40778-017-0076-6. Green open access
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O'Reilly, MA; Bathelt, J; Sakkalou, E; Sakki, H; Salt, A; Dale, NJ; de Haan, M; (2017) Frontal EEG asymmetry and later behavior vulnerability in infants with congenital visual impairment. Clinical Neurophysiology , 128 (11) pp. 2191-2199. 10.1016/j.clinph.2017.08.016. Green open access
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Olcese, C; Patel, MP; Shoemark, A; Kiviluoto, S; Legendre, M; Williams, HJ; Vaughan, CK; ... Mitchison, HM; + view all (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications , 8 , Article 14279. 10.1038/ncomms14279. Green open access
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Omairi, S; Hau, K-L; Collin-Hooper, H; Montanaro, F; Goyenvalle, A; Garcia, L; Patel, K; (2017) Relationship between myosin heavy chain fibre type and restoration of dystrophin expression and key components of the dystrophin-associated glycoprotein complex by Tricyclo-DNA mediated exon skipping. Molecular Therapy - Nucleic Acids 10.1016/j.omtn.2017.10.014. (In press). Green open access
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Peall, KJ; Lorentzos, MS; Heyman, I; Tijssen, MAJ; Owen, MJ; Dale, RC; Kurian, MA; (2017) A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders. Neuroscience and Biobehavioral Reviews , 80 pp. 23-35. 10.1016/j.neubiorev.2017.05.014. Green open access
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Peall, KJ; Ng, J; Dy, ME; Sharma, N; Pope, S; Heales, S; Friedman, JR; (2017) Low CSF 5-HIAA in Myoclonus Dystonia. Movement Disorder , 32 (11) pp. 1647-1649. 10.1002/mds.27117. Green open access
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Pera, MC; Coratti, G; Forcina, N; Mazzone, ES; Scoto, M; Montes, J; Pasternak, A; ... Mercuri, E; + view all (2017) Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurology , 17 (1) , Article 39. 10.1186/s12883-017-0790-9. Green open access
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Pratt, R; Hutchinson, JC; Melbourne, A; Zuluaga, MA; Virasami, A; Vercauteren, T; Ourselin, S; ... David, AL; + view all (2017) Imaging the human placental microcirculation with micro-focus computed tomography: Optimisation of tissue preparation and image acquisition. Placenta , 60 pp. 36-39. 10.1016/j.placenta.2017.09.013. Green open access
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Pressler, RM; Seri, S; Kane, N; Martland, T; Goyal, S; Iyer, A; Warren, E; ... Boyd, SG; + view all (2017) Consensus-based guidelines for Video EEG monitoring in the pre-surgical evaluation of children with epilepsy in the UK. Seizure , 50 pp. 6-11. 10.1016/j.seizure.2017.05.008. Green open access
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Price, SJ; Allinson, K; Liu, H; Boonzaier, NR; Yan, J-L; Lupson, VC; Larkin, TJ; (2017) Less Invasive Phenotype Found in Isocitrate Dehydrogenase-mutated Glioblastomas than in Isocitrate Dehydrogenase Wild-Type Glioblastomas: A Diffusion-Tensor Imaging Study. Radiology , 283 (1) pp. 215-221. 10.1148/radiol.2016152679. Gold open access
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Pujar, SS; Seunarine, KK; Martinos, MM; Neville, BGR; Scott, RC; Chin, RFM; Clark, CA; (2017) Long-term white matter tract reorganization following prolonged febrile seizures. Epilepsia , 58 (5) pp. 772-780. 10.1111/epi.13724. Green open access
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Puzzo, I; Seunarine, K; Sully, K; Darekar, A; Clark, C; Sonuga-Barke, EJS; Fairchild, G; (2017) Altered White-Matter Microstructure in Conduct Disorder Is Specifically Associated with Elevated Callous-Unemotional Traits. Journal of Abnormal Child Psychology 10.1007/s10802-017-0375-5. (In press). Green open access
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Ramsey, D; Scoto, M; Mayhew, A; Main, M; Mazzone, ES; Montes, J; de Sanctis, R; ... Muntoni, F; + view all (2017) Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. PLoS One , 12 (2) , Article e0172346. 10.1371/journal.pone.0172346. Green open access
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Reza, M; Cox, D; Phillips, L; Johnson, D; Manoharan, V; Grieves, M; Davis, B; ... Lochmüller, H; + view all (2017) MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscular Disorders , 27 (11) pp. 1054-1064. 10.1016/j.nmd.2017.07.001. Green open access
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Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; ... Crow, YJ; + view all (2017) Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. Neuropediatrics , 48 (3) pp. 166-184. 10.1055/s-0037-1601449. Green open access
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Rodriguez-Florez, N; Ibrahim, A; Hutchinson, JC; Borghi, A; James, G; Arthurs, O; Ferretti, P; ... Jeelani, NUO; + view all (2017) Cranial bone structure in children with sagittal craniosynostosis: relationship with surgical outcomes. Journal of Plastic, Reconstructive & Aesthetic Surgery , 70 (11) pp. 1589-1597. 10.1016/j.bjps.2017.06.017. Green open access
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Rosch, RE; Baldeweg, T; Moeller, F; Baier, G; (2017) Network dynamics in the healthy and epileptic developing brain. Network Neuroscience 10.1162/NETN_a_00026. (In press). Green open access
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Ross, JA; Webster, RG; Lechertier, T; Reynolds, LE; Turmaine, M; Bencze, M; Jamshidi, Y; ... Conti, FJ; + view all (2017) Multiple roles of integrin-α3 at the neuromuscular junction. Journal of Cell Science , 130 (10) pp. 1772-1784. 10.1242/jcs.201103. Green open access
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Rougier, NP; Hinsen, K; Alexandre, F; Arildsen, T; Barba, LA; C Y Benureau, A; Brown, CT; ... Zito, T; + view all (2017) Sustainable computational science: The ReScience Initiative. PeerJ Computer Science , 3 , Article e142. 10.7717/peerj-cs.142. Green open access
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Sadleir, LG; Mountier, EI; Gill, D; Davis, S; Joshi, C; DeVile, C; Kurian, MA; ... Scheffer, IE; + view all (2017) Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology , 89 (10) pp. 1035-1042. 10.1212/WNL.0000000000004331. Green open access
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Salpietro, V; Lin, W; Delle Vedove, A; Storbeck, M; Liu, Y; Efthymiou, S; Manole, A; ... Houlden, H; + view all (2017) Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Annals of Neurology , 81 (4) pp. 597-603. 10.1002/ana.24905. Green open access
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Sardone, V; Zhou, H; Muntoni, F; Ferlini, A; Falzarano, MS; (2017) Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. Molecules , 22 (4) , Article 563. 10.3390/molecules22040563. Green open access
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Schmidt, AF; Swerdlow, DI; Holmes, MV; Patel, RS; Fairhurst-Hunter, Z; Lyall, DM; Hartwig, FP; ... Sattar, N; + view all (2017) PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study. The Lancet: Diabetes and Endocrinology , 5 (2) pp. 97-105. 10.1016/S2213-8587(16)30396-5. Green open access
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Schoeler, NE; Bell, G; Yuen, A; Kapelner, AD; Heales, SJR; Cross, JH; Sisodiya, S; (2017) An examination of biochemical parameters and their association with response to ketogenic dietary therapies. Epilepsia , 58 (5) pp. 893-900. 10.1111/epi.13729. Green open access
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Schulze, K; Vargha-Khadem, F; Mishkin, M; (2017) Phonological Working Memory and FOXP2. Neuropsychologia , 108 pp. 147-152. 10.1016/j.neuropsychologia.2017.11.027. Green open access
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Shamshiri, EA; Tierney, TM; Centeno, M; St Pier, K; Pressler, RM; Sharp, DJ; Perani, S; ... Carmichael, DW; + view all (2017) Interictal activity is an important contributor to abnormal intrinsic network connectivity in paediatric focal epilepsy. Human Brain Mapping , 38 (1) pp. 221-236. 10.1002/hbm.23356. Green open access
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Shelmerdine, SC; Arthurs, OJ; (2017) Reply regarding 'Presentation to publication: institutional and individual factors'. Pediatric Radiology , 47 (2) pp. 247-248. 10.1007/s00247-016-3744-2. Green open access
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Shelmerdine, SC; Hutchinson, JC; Sebire, NJ; Jacques, TS; Arthurs, OJ; (2017) Post-mortem magnetic resonance (PMMR) imaging of the brain in fetuses and children with histopathological correlation. Clinical Radiology , 72 (12) pp. 1025-1037. 10.1016/j.crad.2017.07.015. Green open access
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Skaaby, T; Taylor, AE; Jacobsen, RK; Paternoster, L; Thuesen, BH; Ahluwalia, TS; Larsen, SC; ... Linneberg, A; + view all (2017) Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium. Scientific Reports , 7 , Article 2224. 10.1038/s41598-017-01977-w. Green open access
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Steinlin, M; O'callaghan, F; Mackay, MT; (2017) Planning interventional trials in childhood arterial ischaemic stroke using a Delphi consensus process. Developmental Medicine and Child Neurology , 59 (7) pp. 713-718. 10.1111/dmcn.13393. Green open access
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Stern, WM; Winston, JS; Murphy, E; Cross, JH; Sander, JW; (2017) Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy. Practical Neurology , 17 (3) pp. 207-211. 10.1136/practneurol-2016-001475. Green open access
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Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all (2017) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica 10.1007/s00401-017-1773-z. (In press). Green open access
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Sweeney, NP; Meng, J; Patterson, H; Morgan, JE; McClure, M; (2017) Delivery of large transgene cassettes by foamy virus vector. Scientific Reports , 7 (1) , Article 8085. 10.1038/s41598-017-08312-3. Green open access
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Tabrizi, SJ; McColgan, P; Gregory, S; Seunarine, K; Durr, A; Raymund, R; Leavitt, B; ... Rees, G; + view all (2017) Structural and Functional Brain Network Correlates of Depressive Symptoms in Premanifest Huntington’s Disease. Human Brain Mapping 10.1002/hbm.23527. (In press). Green open access
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Tagalakis, AD; Maeshima, R; Yu-Wai-Man, C; Meng, J; Syed, F; Wu, LP; Aldossary, AM; ... Hart, SL; + view all (2017) Peptide and nucleic acid-directed self-assembly of cationic nanovehicles through giant unilamellar vesicle modification: targetable nanocomplexes for in vivo nucleic acid delivery. Acta Biomaterialia 10.1016/j.actbio.2017.01.048. (In press). Green open access
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Tansley, SL; Simou, S; Shaddick, G; Betteridge, ZE; Almeida, B; Gunawardena, H; Thomson, W; ... McHugh, NJ; + view all (2017) Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort. J Autoimmun 10.1016/j.jaut.2017.06.007. (In press). Green open access
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Thompson, D; (2017) Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. Dev Med Child Neurol , 59 (2) pp. 120-121. 10.1111/dmcn.13264.

Titre-Johnson, S; Schoeler, N; Eltze, C; Williams, R; Vezyroglou, K; McCullagh, H; Freemantle, N; ... Cross, JH; + view all (2017) Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial. Trials , 18 , Article 195. 10.1186/s13063-017-1918-3. Green open access
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Toescu, SM; Alalade, AF; Steele, L; Bhargava, D; Hunter, R; (2017) Frontal skull osteoblastoma with aneurysmal bone cyst-like changes associated with trauma during pregnancy: a case report. Acta Neurochirurgica , 159 (2) pp. 393-396. 10.1007/s00701-016-3024-9. Green open access
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Toescu, SM; Lacey, S; Low, HL; (2017) First report of postoperative intracranial Weeksella virosa infection. Acta Neurochirurgica , 159 (11) pp. 2235-2238. 10.1007/s00701-017-3307-9. Green open access
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Tupprasoot, R; Langan, D; Hutchinson, JC; Barrett, H; Sury, MR; Arthurs, OJ; (2017) Three-Dimensional Imaging-Based Web Application for Predicting Tracheal Tube Depth in Preterm Neonates. Neonatology , 111 (4) pp. 376-382. 10.1159/000455036. Green open access
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Vink, CA; Counsell, JR; Perocheau, DP; Karda, R; Buckley, SMK; Brugman, MH; Galla, M; ... Howe, SJ; + view all (2017) Eliminating HIV-1 Packaging Sequences from Lentiviral Vector Proviruses Enhances Safety and Expedites Gene Transfer for Gene Therapy. Molecular Therapy , 25 (8) pp. 1790-1804. 10.1016/j.ymthe.2017.04.028. Green open access
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Vogt, VL; Äikiä, M; Del Barrio, A; Boon, P; Borbély, C; Bran, E; Braun, K; ... E-PILEPSY consortium, .; + view all (2017) Current standards of neuropsychological assessment in epilepsy surgery centers across Europe. Epilepsia , 58 (3) pp. 343-355. 10.1111/epi.13646. Green open access
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Walker, SM; (2017) Translational studies identify long-term impact of prior neonatal pain experience. Pain , 158 (4 (S1)) S29-S42. 10.1097/j.pain.0000000000000784. Green open access
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Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; ... Opladen, T; + view all (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases , 12 , Article 12. 10.1186/s13023-016-0522-z. Green open access
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Welby, E; Lakowski, J; Di Foggia, V; Budinger, D; Gonzalez-Cordero, A; Lun, ATL; Epstein, M; ... Sowden, JC; + view all (2017) Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells. Stem Cell Reports , 9 (6) pp. 1898-1915. 10.1016/j.stemcr.2017.10.018. Green open access
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Wenneras, C; Goldblatt, D; Zancolli, M; Mattsson, M; Wass, L; Horkko, S; Rosen, A; (2017) Natural IgM antibodies in the immune defence against neoehrlichiosis. Infectious Diseases , 49 (11-12) pp. 809-816. 10.1080/23744235.2017.1347815. Green open access
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White, MJ; Beaver, CM; Goodier, MR; Bottomley, C; Nielsen, CM; Wolf, A-SFM; Boldrin, L; ... Riley, EM; + view all (2017) Calorie Restriction Attenuates Terminal Differentiation of Immune Cells. Frontiers in Immunology , 7 , Article 667. 10.3389/fimmu.2016.00667. Green open access
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Whitehead, K; Pressler, R; Fabrizi, L; (2017) Characteristics and clinical significance of delta brushes in the EEG of premature infants. Clinical Neurophysiology Practice , 2 pp. 12-18. 10.1016/j.cnp.2016.11.002. Green open access
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Wiessner, M; Roos, A; Munn, CJ; Viswanathan, R; Whyte, T; Cox, D; Schoser, B; ... Senderek, J; + view all (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. The American Journal of Human Genetics , 100 (3) pp. 523-536. 10.1016/j.ajhg.2017.01.024. Green open access
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Willen, SM; Rodeghier, M; Strunk, RC; Rosen, CL; Kirkham, FJ; Field, JJ; DeBaun, MR; (2017) Airway Hyperresponsiveness Does Not Predict Morbidity in Children with Sickle Cell Anemia. American Journal of Respiratory and Critical Care Medicine , 195 (11) pp. 1533-1534. 10.1164/rccm.201610-1970LE. Green open access
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Wilmshurst, JM; Ibekwe, RC; O'Callaghan, FJK; (2017) Epileptic spasms - 175 years on: Trying to teach an old dog new tricks. Seizure , 44 pp. 81-86. 10.1016/j.seizure.2016.11.021. Green open access
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Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; ... Mills, PB; + view all (2017) An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Analytical Chemistry , 89 (17) pp. 8892-8900. 10.1021/acs.analchem.7b01358. Green open access
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Yan, J-L; van der Hoorn, A; Larkin, TJ; Boonzaier, NR; Matys, T; Price, SJ; (2017) Extent of resection of peritumoral diffusion tensor imaging-detected abnormality as a predictor of survival in adult glioblastoma patients. Journal of neurosurgery , 126 (1) pp. 234-241. 10.3171/2016.1.JNS152153. Green open access
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Yu Wai Man, C; Tagalakis, AD; Meng, JH; Bouremel, Y; Lee, RM; Virasami, A; Hart, SL; (2017) Genotype-Phenotype Associations of IL6 and PRG4 With Conjunctival Fibrosis After Glaucoma Surgery. JAMA Ophthalmology , 135 (11) pp. 1147-1155. 10.1001/jamaophthalmol.2017.3407.

van Dijken, BRJ; Yan, J-L; Boonzaier, NR; Li, C; van Laar, PJ; van der Hoorn, A; Price, SJ; (2017) Subventricular Zone Involvement Characterized by Diffusion Tensor Imaging in Glioblastoma. World Neurosurgery , 105 pp. 697-701. 10.1016/j.wneu.2017.06.075. Green open access
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Book chapter

Barnard, RC; Kiss, IZ; Farmer, SF; Berthouze, L; (2017) Clustered arrangement of inhibitory neurons can lead to oscillatory dynamics in a model of activity-dependent structural plasticity. In: The Rewiring Brain: A Computational Approach to Structural Plasticity in the Adult Brain. (pp. 123-154).

Hutchinson, CC; Sebire, NJ; Arthurs, OJ; (2017) The role of cross-sectional imaging in the investigation of childhood deaths. In: Essentials of Autopsy Practice: Reviews, Updates, and Advances. (pp. 1-21).

Tedesco, FS; Moyle, LA; Perdiguero, E; (2017) Muscle Interstitial Cells: A Brief Field Guide to Non-satellite Cell Populations in Skeletal Muscle. In: Perdiguero, E and Cornelison, DDW, (eds.) Muscle Stem Cells: Methods and Protocols (Part III). (pp. 129-147). Springer New York: New York, USA. Green open access
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Thompson, D; Hayward, R; (2017) Osseous malformations of the skull and craniovertebral junction. In: Arzimanoglu, A and O'Hare, A and Johnston, M and Ouvrier, O, (eds.) Aicardi`s Diseases of the Nervous System in Childhood. Wiley

van Wijk, M; Vester, MEM; Arthurs, OJ; van Rijn, RR; (2017) Pediatric Medicine-Postmortem Imaging in Suspected Child Abuse. In: Human Remains: Another Dimension The Application of Imaging to the Study of Human Remains. (pp. 149-174).

Proceedings paper

Susana Muñoz, M; Bastin, ME; Deary, IJ; Wardlaw, JM; Clayden, JD; (2017) Improved reference tracts for unsupervised brain white matter tractography. In: (Proceedings) MIUA 2017: Medical Image Understanding and Analysis. (pp. pp. 425-435). Springer: Switzerland, Cham. Green open access
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Conference item

Bellin, A; Mathews, E; Morrow, J; Ramdharry, G; Houlden, H; Muntoni, F; Rossor, A; ... Machado, PM; + view all (2017) THE MRC CENTRE FOR NEUROMUSCULAR DISEASES OBSERVATIONAL COHORTS: A TOOL TO TRANSLATE DISCOVERY SCIENCE INTO TREATMENTS FOR PATIENTS. Presented at: Annual Scientific Meeting of the Muscle-Study-Group on Neuromuscular Therapeutics - Bench to Beside and Beyond, Snowbird, UT.

Ben Yaou, R; Dabaj, I; Yun, P; Norato, G; Xiong, H; Nascimento, A; Maggi, L; ... Bonne, G; + view all (2017) First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history study. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Bencze, M; Meng, J; Pini, V; Conti, F; Muntoni, F; Morgan, J; (2017) Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Bolduc, V; Foley, A; Donkervoort, S; Hu, Y; Cummings, B; Lek, M; Sarathy, A; ... Bonnemann, C; + view all (2017) A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Bolduc, V; Foley, AR; Donkervoort, S; Hu, Y; Cummings, BB; Lek, M; Sarathy, A; ... Bonnemann, CG; + view all (2017) A Dominant-Negative COL6A1 Pseudoexon Insertion Is Skippable Using Splice-Modulating Oligonucleotides. Presented at: 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Cornett, KMD; Menezes, MP; Shy, RR; Moroni, I; Pagliano, E; Pareyson, D; Estilow, T; ... Burns, J; + view all (2017) RATE OF PROGRESSION IN PEDIATRIC CHARCOT-MARIE-TOOTH DISEASE. Presented at: Peripheral-Nerve-Society Meeting, Sitges, SPAIN.

Counsell, JR; Vink, CA; Karda, R; Perocheau, DP; Brugman, MH; Buckley, SM; Muntoni, F; ... Howe, SJ; + view all (2017) LTR1 Vectors Enhance Safety in Gene Therapy and Can Be Exploited for Rapid, Transient Gene Delivery. Presented at: 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Cuka, S; Ng, J; Seino, K; Hughes, M; Massaro, G; Waddington, S; Kurian, M; (2017) Novel Therapeutic Strategies in NBIA: A Gene Therapy Approach for PLA2G6-Associated Neurodegeneration. Presented at: Annual Conference of the British-Society-for-Gene-and-Cell-Therapy / Joint UK-Regenerative-Medicine-Platform Meeting, Royal Welsh Coll Mus & Drama, Cardiff, WALES.

Dabaj, I; Ben Yaou, R; Bonnemann, C; Nascimento, A; Rutkowski, A; Erazo Torricelli, R; Muntoni, F; ... Quijano-roy, S; + view all (2017) Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

De Vries, PJ; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Jansen, AC; + view all (2017) TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): FURTHER RESULTS FROM THE TOSCA NATURAL HISTORY STUDY. Presented at: UNSPECIFIED.

Domingos, J; Eagle, M; Moraux, A; Butler, J; Decostre, V; Ridout, D; Mayhew, A; ... Muntoni, F; + view all (2017) Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trials. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Estilow, T; Glanzman, AM; Burns, J; Cornett, KMD; Menezes, MP; Shy, R; Moroni, I; ... Ramchandren, S; + view all (2017) FUNCTIONAL IMPLICATIONS OF HAND IMPAIRMENT IN PEDIATRIC CHARCOT-MARIE-TOOTH. Presented at: Peripheral-Nerve-Society Meeting, Sitges, SPAIN.

Feng, L; Ellis, M; Curtis-Wetton, E; Chambers, D; Matthews, A; Manzur, A; Muntoni, F; ... Phadke, R; + view all (2017) Muscle fibre size revisited: updated age-stratified normative data in histologically normal/minimal change (HN/MC) paediatric quadriceps biopsies using a high-throughput automated digital script. Presented at: 118th Meeting of the British-Neuropathological-Society, Royal Coll Phys, London, ENGLAND.

Foley, AR; Donkervoort, S; Bolduc, V; Hu, Y; Cummings, B; Lek, M; Sarkozy, A; ... Bonnemann, C; + view all (2017) A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Frank, D; Dworzak, J; Lawlor, M; Lewis, S; Sahenk, Z; Stewart, M; Kincaid, C; ... Moore, S; + view all (2017) Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeutics. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Gan, H-W; Albanese, A; Morillon, P; Aquilina, K; Barkas, K; Chandler, C; Chang, Y-C; ... Mallucci, C; + view all (2017) NATIONAL UK GUIDELINES FOR THE INVESTIGATION, TREATMENT AND LONG-TERM FOLLOW-UP OF PAEDIATRIC CRANIOPHARYNGIOMA. Presented at: UNSPECIFIED.

Gidaro, T; Servais, L; Previtali, S; Zambon, A; Pitchforth, J; Maresh, K; Diaz, J; ... Muntoni, F; + view all (2017) Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Amato, LD; ... Kingswood, JC; + view all (2017) QUALITY OF LIFE AND BURDEN OF DISEASE IN TUBEROUS SCLEROSIS COMPLEX (TSC): FINDINGS FROM TOSCA RESEARCH PROJECT. Presented at: UNSPECIFIED.

Koelbel, M; Kawadler, J; Stotesbury, H; Balfour, P; Kirkham, F; (2017) SLEEP DISORDERED BREATHING IN CHILDREN AND ADOLESCENT WITH SICKLE CELL DISEASE: IMPACT ON EXECUTIVE FUNCTION AND PROCESSING SPEED INDEX. Presented at: 22nd Congress of the European-Hematology-Association, Madrid, SPAIN.

Kulshrestha, R; Sewry, C; Muntoni, F; Willis, T; Munot, P; (2017) Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in children. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Li, C; Yan, J; Boonzaier, NR; Huang, Y; Yuan, J; Price, SJ; (2017) MULTIPARAMETRIC MAGNETIC RESONANCE IMAGING REVEALED TUMOR NICHES IN GLIOBLASTOMA PATIENTS. Presented at: 5th Quadrennial Meeting of the World-Federation-of-Neuro-Oncology-Societies (WFNOS), Zurich, SWITZERLAND.

Li, Y-F; Fairchild, A; Pickles, JC; Virasami, A; Sceirf, F; Picker, SR; Apps, J; ... Jacques, TS; + view all (2017) Modelling cell-cell interactions in developmental neuropathology: Experience from focal cortical dysplasia. Presented at: 118th Meeting of the British-Neuropathological-Society, Royal Coll Phys, London, ENGLAND.

Lofra, RM; Eagle, M; Fort, A; Ramsey, D; Scoto, M; Muntoni, F; Bushby, K; ... Mayhew, A; + view all (2017) Patient's perception around disease progression and influential factors in spinal muscle atrophy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Mandarakas, M; Shy, R; Kennedy, R; Herbert, K; Rose, K; Menezes, MP; Ryan, M; ... Sanmaneechai, O; + view all (2017) SENSITIVITY OF THE CMT INFANT SCALE: PRELIMINARY ANALYSIS OF CMT SUBTYPES AND COMPARISON TO CONTROLS. Presented at: Peripheral-Nerve-Society Meeting, Sitges, SPAIN.

Mariot, V; Joubert, R; Hourde, C; Feasson, L; Hanna, M; Muntoni, F; Maisonobe, T; ... Dumonceaux, J; + view all (2017) Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Mariot, V; Joubert, R; Hourde, C; Feasson, L; Hanna, M; Muntoni, F; Maisonobe, T; ... Dumonceaux, J; + view all (2017) Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Matthews, E; Silwal, A; Sud, R; Manzur, A; Hanna, M; Muntoni, F; Munot, P; (2017) Skeletal muscle channelopathies: Rare treatable disorders with common presentation in childhood. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Mercuri, E; Goemans, N; Muntoni, F; Manzur, A; Wong, B; Signorovitch, J; Ward, S; (2017) Accelerating the translation of natural history into more effective clinical trial design through multi-stakeholder collaboration. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Milev, E; Bhandari, T; Laura, M; Reilly, M; Muntoni, F; (2017) The effect of orthosis and foot surgery in a cohort of Charcot-Marie-Tooth disease children. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Morales, H; Sanchez-Hernandez, B; Leal-Ortega, R; Rodriguez-Violante, M; Kurian, M; Fung, V; (2017) The predominant parkinsonian phenotype in beta propeller associated neurodegeneration (BPAN). Presented at: 21st International Congress of Parkinson's Disease and Movement Disorders, Vancouver, CANADA.

Munot, P; Zaharieva, I; Hartley, L; Phadke, R; Sewry, C; Feng, L; Sud, R; ... Muntoni, F; + view all (2017) Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Muntoni, F; Buchbjerg, J; Bertini, E; Dessaud, E; Mercuri, E; Kirschner, J; Reid, C; ... Fontoura, P; + view all (2017) Olesoxime in patients with type 2 or non-ambulatory type 3 Spinal muscular atrophy: a placebo-controlled phase 2 trial including a long-term, open-label follow-up study. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Muntoni, F; Maresh, K; Davies, K; Harriman, S; Layton, G; Rosskamp, R; Russell, A; ... Tinsley, J; + view all (2017) PhaseOut DMD: a Phase 2, proof of concept, clinical study of utrophin modulation with ezutromid. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Neri, M; Scotton, C; Selvatici, R; Gualandi, F; Wirth, B; Schols, L; Klockgether, T; ... Ferlini, A; + view all (2017) The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Oates, E; Yau, K; Jones, K; Smith, J; Cummings, B; Farrar, M; Cooper, S; ... Laing, N; + view all (2017) Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy? Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Phadke, R; Logan, CV; Szabadkai, G; Childs, A; Roper, H; Nicks, E; Sewry, CA; ... Sheridan, E; + view all (2017) The clinicopathological spectrum of a brain and muscle disorder due to loss-of-function mutations in MICU1. Presented at: 118th Meeting of the British-Neuropathological-Society, Royal Coll Phys, London, ENGLAND.

Sarkozy, A; Zaharieva, I; Nasca, A; Scotton, C; Selvatici, R; Neri, M; Magnusson, O; ... Ferlini, A; + view all (2017) Recessive mutations in novel gene MSTO1 cause early onset neuromuscular condition. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Schartner, V; Romero, N; Donkervoort, S; Treves, S; Munot, P; Pierson, T; Dabaj, I; ... Laporte, J; + view all (2017) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Schottlaender, L; Scoto, M; Imbrigiotta, N; Davis, T; Main, M; Munot, P; Sarkozy, A; ... Muntoni, F; + view all (2017) Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2). Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Selby, V; Ramdharry, G; Hanna, M; Muntoni, F; (2017) Development of a specific home based assessment tool for monitoring fluctuations in physical function and muscle performance in adult and paediatric myasthenia patients. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Selby, V; Ramdharry, G; Hogrel, JY; Milev, E; Hanna, M; Muntoni, F; (2017) Functional fatigue in a sample of the UK myasthenic population. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Servais, L; Farrar, M; Finkel, R; Kirschner, J; Muntoni, F; Sun, P; Gheuens, S; ... Farwell, W; + view all (2017) Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA). Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Tinsley, J; Frank, D; Dworzak, I; Faelan, C; Patterson-Kane, J; Wolff, H; Muntoni, F; (2017) Collection of high quality muscle biopsies for use in DMD clinical trial analysis; process development and implementation. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Treves, S; Bachmann, C; Jungbluth, H; Muntoni, F; Manzur, AY; Zorzato, F; (2017) Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-Linked Myotubular Myopathy due to MTM1 Mutations. Presented at: 61st Annual Meeting of the Biophysical-Society, New Orleans, LA.

Trucco, F; Pedemonte, M; Racca, F; Falsaperla, R; Romano, C; Wenzel, A; Tacchetti, P; ... Minetti, C; + view all (2017) Tele-monitoring in paediatric neuromuscular patients requiring home mechanical ventilation, multicentric study. Presented at: European-Respiratory-Society (ERS) International Congress, Milan, Italy. Green open access
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Wein, N; Simmons, T; Gumienny, F; Huang, N; Heller, K; Rodino-Klapac, L; Muntoni, F; (2017) Prolonged Exon 2 Skipping and Robust Dystrophin Expression 1 Year Post Single Neonatal Injection of an AAV9. U7snRNA Vector in the Dup2 Mouse. Presented at: 20th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, DC.

Wein, N; Simmons, T; Gumienny, F; Huang, N; Heller, K; Yurkoski, J; Rodino-Klapac, L; ... Flanigan, K; + view all (2017) A single neonatal injection of an AAV9.U7snRNA virus mediating skipping of dmd exon 2 allows dystrophin expression preventing apparition of pathologic features in the Dup2 mouse one year post injection. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Xu, Y; Fitzgerald, M; Beggs, S; (2017) The phagocytic profile of microglia in the postnatal development of the spinal cord. Presented at: 13th European Meeting on Glial Cells in Health and Disease, Edinburgh, SCOTLAND.

Zaharieva, I; Sarkozy, A; Manzur, A; Munot, P; Jungbluth, H; Feng, L; Phadke, R; ... Muntoni, F; + view all (2017) Functional characterisation of p.Trp284Ser STAC3 mutation causing impaired excitation-contraction coupling in congenital myopathy patients. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Zhou, H; Marrosu, E; Ala, P; Muntoni, F; (2017) Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophy. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Zhou, H; Scoto, M; Catapano, F; Zahariewa, I; Muntoni, F; (2017) Differential expression of microRNAs in spinal muscular atrophy points towards significant peripheral organ involvement in the disease. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

Thesis

Chan, Samantha Yuen-Sum; (2017) The contribution of sleep to cognitive function in children with epilepsy. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Cooper, H; (2017) Neurodevelopment of children at risk of hearing and communication problems. Doctoral thesis , UCL (University College London). Green open access
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Parker, CS; (2017) Human brain networks: consensus, reproducibility, inter-modal comparison and epilepsy pathology. Doctoral thesis , UCL (University College London). Green open access
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This list was generated on Sun Aug 18 07:41:47 2019 BST.